title: Lysinuric protein intolerance masquerading as celiac disease: a case report.
abstract: A 5 1/2-year-old boy presented with delayed growth, chronic diarrhea, and hypoproteinemia. Clinical presentation, initial laboratory data, and evaluation of an intestinal biopsy specimen suggested a diagnosis of celiac disease. Symptoms did not resolve on a gluten-free diet. The development of hyperammonemia prompted further studies that led to the diagnosis of lysinuric protein intolerance. Lysinuric protein intolerance, although a rare disorder, should be included in the differential diagnosis of conditions associated with intestinal villous atrophy.
authors.affiliation: Department of Pediatrics, University of Minnesota, Minneapolis, USA.
authors.forename: M A
authors.initials: MA
authors.lastname: Reinoso
authors.forename: C
authors.initials: C
authors.lastname: Whitley
authors.forename: J
authors.initials: J
authors.lastname: Jessurun
authors.forename: S J
authors.initials: SJ
authors.lastname: Schwarzenberg
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D001706:Biopsy; D002446:Celiac Disease / Q000175:diagnosis*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D003967:Diarrhea / Q000150:complications / Q000209:etiology; D004386:Duodenum / Q000473:pathology; D006130:Growth Disorders / Q000150:complications / Q000209:etiology; D006801:Humans; D007019:Hypoproteinemia / Q000150:complications / Q000209:etiology; D008239:Lysine / Q000378:metabolism*; D008297:Male
chemical_list: D008239:Lysine